• Gene id: 4629

Gene Summary

• Gene Symbol: MYH11   Gene   UCSC   Ensembl
• Aliases: AAT4, FAA4, SMHC, SMMHC
• Gene name: myosin heavy chain 11
• Alternate names: myosin-11, epididymis secretory sperm binding protein, myosin heavy chain, smooth muscle isoform, myosin, heavy chain 11, smooth muscle, myosin, heavy polypeptide 11, smooth muscle,
• Gene location: 16p13.11 (15857031: 15703134)     Exons: 43     NC_000016.10
• Gene summary(Entrez): The protein encoded by this gene is a smooth muscle myosin belonging to the myosin heavy chain family. The gene product is a subunit of a hexameric protein that consists of two heavy chain subunits and two pairs of non-identical light chain subunits. It f
• OMIM: 160745

Protein Summary

• Protein general information: P35749  
  • Name: Myosin 11 (Myosin heavy chain 11) (Myosin heavy chain, smooth muscle isoform) (SMMHC)
  • Length: 1972  
  • Mass: 227339
  • Tissue specificity: Smooth muscle; expressed in the umbilical artery, bladder, esophagus and trachea. Isoform 1 is mostly found in slowly contracting tonic muscles. {ECO
• Sequence:

  MAQKGQLSDDEKFLFVDKNFINSPVAQADWAAKRLVWVPSEKQGFEAASIKEEKGDEVVVELVENGKKVTVGKDD
  IQKMNPPKFSKVEDMAELTCLNEASVLHNLRERYFSGLIYTYSGLFCVVVNPYKHLPIYSEKIVDMYKGKKRHEM
  PPHIYAIADTAYRSMLQDREDQSILCTGESGAGKTENTKKVIQYLAVVASSHKGKKDTSITGELEKQLLQANPIL
  EAFGNAKTVKNDNSSRFGKFIRINFDVTGYIVGANIETYLLEKSRAIRQARDERTFHIFYYMIAGAKEKMRSDLL
  LEGFNNYTFLSNGFVPIPAAQDDEMFQETVEAMAIMGFSEEEQLSILKVVSSVLQLGNIVFKKERNTDQASMPDN
  TAAQKVCHLMGINVTDFTRSILTPRIKVGRDVVQKAQTKEQADFAVEALAKATYERLFRWILTRVNKALDKTHRQ
  GASFLGILDIAGFEIFEVNSFEQLCINYTNEKLQQLFNHTMFILEQEEYQREGIEWNFIDFGLDLQPCIELIERP
  NNPPGVLALLDEECWFPKATDKSFVEKLCTEQGSHPKFQKPKQLKDKTEFSIIHYAGKVDYNASAWLTKNMDPLN
  DNVTSLLNASSDKFVADLWKDVDRIVGLDQMAKMTESSLPSASKTKKGMFRTVGQLYKEQLGKLMTTLRNTTPNF
  VRCIIPNHEKRSGKLDAFLVLEQLRCNGVLEGIRICRQGFPNRIVFQEFRQRYEILAANAIPKGFMDGKQACILM
  IKALELDPNLYRIGQSKIFFRTGVLAHLEEERDLKITDVIMAFQAMCRGYLARKAFAKRQQQLTAMKVIQRNCAA
  YLKLRNWQWWRLFTKVKPLLQVTRQEEEMQAKEDELQKTKERQQKAENELKELEQKHSQLTEEKNLLQEQLQAET
  ELYAEAEEMRVRLAAKKQELEEILHEMEARLEEEEDRGQQLQAERKKMAQQMLDLEEQLEEEEAARQKLQLEKVT
  AEAKIKKLEDEILVMDDQNNKLSKERKLLEERISDLTTNLAEEEEKAKNLTKLKNKHESMISELEVRLKKEEKSR
  QELEKLKRKLEGDASDFHEQIADLQAQIAELKMQLAKKEEELQAALARLDDEIAQKNNALKKIRELEGHISDLQE
  DLDSERAARNKAEKQKRDLGEELEALKTELEDTLDSTATQQELRAKREQEVTVLKKALDEETRSHEAQVQEMRQK
  HAQAVEELTEQLEQFKRAKANLDKNKQTLEKENADLAGELRVLGQAKQEVEHKKKKLEAQVQELQSKCSDGERAR
  AELNDKVHKLQNEVESVTGMLNEAEGKAIKLAKDVASLSSQLQDTQELLQEETRQKLNVSTKLRQLEEERNSLQD
  QLDEEMEAKQNLERHISTLNIQLSDSKKKLQDFASTVEALEEGKKRFQKEIENLTQQYEEKAAAYDKLEKTKNRL
  QQELDDLVVDLDNQRQLVSNLEKKQRKFDQLLAEEKNISSKYADERDRAEAEAREKETKALSLARALEEALEAKE
  ELERTNKMLKAEMEDLVSSKDDVGKNVHELEKSKRALETQMEEMKTQLEELEDELQATEDAKLRLEVNMQALKGQ
  FERDLQARDEQNEEKRRQLQRQLHEYETELEDERKQRALAAAAKKKLEGDLKDLELQADSAIKGREEAIKQLRKL
  QAQMKDFQRELEDARASRDEIFATAKENEKKAKSLEADLMQLQEDLAAAERARKQADLEKEELAEELASSLSGRN
  ALQDEKRRLEARIAQLEEELEEEQGNMEAMSDRVRKATQQAEQLSNELATERSTAQKNESARQQLERQNKELRSK
  LHEMEGAVKSKFKSTIAALEAKIAQLEEQVEQEAREKQAATKSLKQKDKKLKEILLQVEDERKMAEQYKEQAEKG
  NARVKQLKRQLEEAEEESQRINANRRKLQRELDEATESNEAMGREVNALKSKLRRGNETSFVPSRRSGGRRVIEN
  ADGSEEETDTRDADFNGTKASE

• Structural information:
  • Protein Domains: (31..8-)
    SH3-like (/note="Myosin-N-terminal)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU01190-)
    (85..78-)
    (/note="Myosin-motor)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00782-)
    (786..81-)
    (/note="IQ-)
    (/evidence="ECO:0000255|PROSITE--)
  • Interpro: IPR000048  IPR036961  IPR001609  IPR027401  IPR004009   IPR008989  IPR002928  IPR027417  
  • Prosite: PS50096 PS51456 PS51844
  • DIP: 47268
  • STRING: ENSP00000379616
• Other Databases: GeneCards:  MYH11  Malacards:  MYH11

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0003774	motor activity	IEA	molecular function
GO:0051015	actin filament binding	IEA	molecular function
GO:0005524	ATP binding	IEA	molecular function
GO:0016459	myosin complex	IEA	cellular component
GO:0032982	myosin filament	IEA	cellular component
GO:0005516	calmodulin binding	IEA	molecular function
GO:0003779	actin binding	IEA	molecular function
GO:0016459	myosin complex	IEA	cellular component
GO:0005524	ATP binding	IEA	molecular function
GO:0000166	nucleotide binding	IEA	molecular function
GO:0005859	muscle myosin complex	TAS	cellular component
GO:0006936	muscle contraction	TAS	biological process
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0042470	melanosome	IEA	cellular component
GO:0070062	extracellular exosome	HDA	cellular component
GO:0008307	structural constituent of muscle	IMP	molecular function
GO:0006939	smooth muscle contraction	ISS	biological process
GO:0048739	cardiac muscle fiber development	IMP	biological process
GO:0030241	skeletal muscle myosin thick filament assembly	ISS	biological process
GO:0048251	elastic fiber assembly	IMP	biological process

KEGG pathways

Pathway id	Pathway name
hsa05132	Salmonella infection
hsa05130	Pathogenic Escherichia coli infection
hsa04530	Tight junction
hsa04270	Vascular smooth muscle contraction

Diseases

Associated diseases	References
Familial thoracic aortic aneurysm and dissection	KEGG:H00801
Patent ductus arteriosus	KEGG:H01630
Familial thoracic aortic aneurysm and dissection	KEGG:H00801
Patent ductus arteriosus	KEGG:H01630
Patent ductus arteriosus	PMID:16444274
Thoracic aortic aneurysm	PMID:16444274
Abdominal aortic aneurysm	PMID:30004237
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq